Evidence map›Paper›PMID 36983033›Full record

ArticleInternational journal of molecular sciences2023

Two Single Nucleotide Deletions in the

Katrin A Dohr, Silvija Tokic, Magdalena Gastager-Ehgartner, Tatjana Stojakovic, Miroslav Dumic, Barbara Plecko, Katja K Dumic

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of molecular sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.6field-weighted citation impact, top 31% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed, 4 citations in OpenAlex.

  1. Review
  2. Article
  3. Neurological Diseases: A Molecular Genetic Perspective.International journal of molecular sciences · 2023
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors at 2 institutions in 2 countries.

Katrin A DohrResearch Unit of Analytical Mass Spectrometry, Cell Biology and Biochemistry of Inborn Errors of Metabolism, Department of Paediatrics and Adolescent Medicine, Medical University of Graz, 8036 Graz, Austria.
Silvija TokicResearch Unit of Analytical Mass Spectrometry, Cell Biology and Biochemistry of Inborn Errors of Metabolism, Department of Paediatrics and Adolescent Medicine, Medical University of Graz, 8036 Graz, Austria.
Magdalena Gastager-EhgartnerResearch Unit of Analytical Mass Spectrometry, Cell Biology and Biochemistry of Inborn Errors of Metabolism, Department of Paediatrics and Adolescent Medicine, Medical University of Graz, 8036 Graz, Austria.
Tatjana StojakovicClinical Institute of Medical and Chemical Laboratory Diagnostics, University Hospital Graz, 8036 Graz, Austria.
Miroslav DumicDepartment of Paediatric Endocrinology and Diabetes, Clinical Hospital Centre Zagreb, 10000 Zagreb, Croatia.
Barbara PleckoDivision of General Paediatrics, Department of Paediatrics and Adolescent Medicine, Medical University of Graz, 8036 Graz, Austria.ORCID 0000-0002-3203-1325
Katja K DumicDepartment of Paediatric Endocrinology and Diabetes, Clinical Hospital Centre Zagreb, 10000 Zagreb, Croatia.
Medical University of Graz · ATUniversity Hospital Centre Zagreb · HR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

X-linked adrenoleukodystrophy (X-ALD) is a rare inborn error of the peroxisomal metabolism caused by pathologic variants in the ATP-binding cassette transporter type D, member 1 (

Indexed as

Addison DiseaseAdrenoleukodystrophyATP Binding Cassette Transporter, Subfamily D, Member 1Fatty AcidsHumansLeukocytes, MononuclearNucleotidesPhenotypeRNA, MessengerABCD1 protein, humanATP Binding Cassette Transporter, Subfamily D, Member 1Fatty AcidsNucleotidesRNA, Messengeradrenomyeloneuropathypathogenic variantX-linked adrenoleukodystrophy

Identifiers

PMID36983033
PMCPMC10051867
OpenAlexW4353071711

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.